The gathering pace of genomic advances and their increasing affordability has focused attention to what the implications might be, once these technologies reach the clinic. One relatively unexplored issue is whether patients undergoing clinical investigation using whole genome sequencing (WGS) technologies have a right to access the raw sequence data generated from their samples.
The legal position is not yet entirely clear, and practice seems likely to differ across Europe. In the UK, the starting point might be to question whether sequence data constitutes personal data. According to the Data Protection Act, personal data means "data which relate to a living individual who can be identified from those data, or from those data and other information which is in the possession of, or is likely to come into the possession of, the data controller". The NHS seems likely to introduce WGS in a targeted way, and although fragments of sequence data are of themselves unlikely to be identifiable, together with other information held by the health provider they could fulfil this definition.
Secondly, will raw sequence data generated within a clinical setting form part of a health record? The Data Protection Act defines a health record as consisting of information about the physical or mental health and condition of an individual, made by or on behalf of a health professional in connection with their care. Targeted clinical sequencing for diagnostic purposes would satisfy this definition and in the UK, legal ownership of medical records within the NHS resides with the relevant NHS institution and ultimately the Secretary of State. However where health care is privately funded, patient records are the property of the doctor or the clinic, and case law suggests that items that the private patient has paid for (including pathology reports and x-rays) are the patient’s property.
Patients have rights to access the personal data recorded within their notes (section 7 Data Protection Act 1998), and the proposed changes to the Data Protection regime strengthen these rights. However disclosure of records and the data they contain can be withheld on therapeutic grounds, if disclosure would not be in the patient’s best interests or might breach confidentiality. In the UK, existing legislation, case law and professional guidance does not yet offer definitive advice on this topic, and the extent of potential harms and threats to confidentiality that might arise from disclosing sequence data remain unclear.
Policy makers and professional organisations are beginning to grapple with this topic, but three issues seem to lie at the heart of this debate. One fundamental question is what utility raw sequence data might have to patients (and their families). Increasing pressures for open access to research data have arguably set the trend for increased openness to sharing clinical data. Indeed, for the interested curious patient, there are many websites offering software which could be used to interrogate raw sequence data, including the visionary ENCODE project published last week. Secondly, some professionals question whether patients can be trusted to manage their data: in essence this seems to rehearse old debates about paternalism and the potential for causing harm by providing information.
But beyond trust and genetic literacy, the disclosure of raw sequence data arguably raises expectations in those that receive it that this will be useful either now or in the future. Managing the expectations of patients in a health service with dwindling finances might be a challenge. Perhaps one answer is for sequence data to be released to patients on request, subject to suitable safeguards being in place together with a health warning – ‘use with care’ (caveat emptor).
Leading the regulation and ethics team, Alison contributes legal and ethical expertise in policy development.More about Alison